A path to a rare diagnosis
For this year’s Rare Disease Day theme of research, we asked Hannah what receiving a diagnosis through research has meant for her.
Being told you’re unique is usually a compliment, but when it’s to do with chronic conditions and your health, it’s scary. Having doctors tell me they didn’t know what was going on made things a lot more daunting and stressful.
I was born on 13 November, 1990, in South Wales. Seven and a half weeks prematurely due to my mother developing eclampsia. The doctors had no choice but to carry out an emergency caesarean, which had additional risks to the pregnancy. I’ve always been impatient and as a family we still joke that I started my life screaming and kicking, keeping people on their toes and I have continued to do so ever since!
I had a pretty normal childhood, and there weren’t any real concerns about my progression. The only problem was that I’d end up in hospital with mysterious illnesses and viruses that were unknown to doctors. For years doctors couldn’t put their finger on what was wrong and the test results weren’t giving any answers. Every autumn, I’d start to develop various infections and illnesses. I was very small for my age and had to have specialised clothes and shoes made for me. I was forever falling asleep in random places; I couldn’t go a full day in school or eat a meal without falling asleep sitting upright. This continued right through my childhood, teen years and adulthood. I was sent to numerous specialists but no one knew what was wrong. My tiredness was always put down to my small size and this continued for many years.
Simple daily tasks became a huge challenge for me, and I had to rely on my parents for support. I couldn’t get out of bed or stand up too fast without blacking out. When I came around it was confusing and scary because I didn’t know why this was happening. I’d black out going up the stairs, in warm weather, and after eating. We decided enough was enough, no more tests and doctors that gave us no answers to what was wrong.
At the age of 21, my parents paid for me to see a specialist consultant in London. I wasn’t just a lazy teenager and there were reasons why I slept around the clock. For a while, I decided it couldn’t be as bad as they made out, so I struggled on trying to ignore it, but it wasn’t to last. I got transferred to the national neurological hospital in Queens Square London and the name frightened me let alone the ward. However, they were an amazing team and I met some really inspirational people. I thought to myself that if they could do it then so could I, and to remember the outcome was going to be worth it. After three days of painful, exhaustive testing, I got my diagnosis of postural orthostatic tachycardia syndrome (PoTS). I finally had an answer but it was a huge shock to me and my family. I went from being a carefree 21 year old at university to going through life-changing treatments, operations and being on over 100 medications a day.
I struggled with my diagnosis for many years and battled for my life many times in intensive care before finding a medical plan that suited my body. I knew I needed to find a job where I could be my own boss and work from home and then I thought, I’ll start my own blog, be my own boss and help spread positive awareness. When I was first diagnosed I struggled to find anything positive about the condition, and any information I did find was terrifying; either all doom and gloom or extremely scary. I promised myself once my health was stable I would start my own blog, not just about different rare conditions, but how to stay positive through difficult times.
A few years on, I’m married with an amazing, kind and caring husband, have a successful job and my own place to live with care. I wouldn’t have chosen this way of life but I wouldn’t change it either. Living with rare chronic conditions isn’t easy but I’m determined to make the most of my life.
You can visit Hannah’s BLOG, Facebook page (@medicsmylineandme), Twitter (HAEvans1990) and Instagram (@medicsmylineandme), where she shares her story to raise awareness and inspire other people living life after diagnosis.
By Hannah Amelia Evans